Gene Gene information from NCBI Gene database.
Entrez ID 5261
Gene name Phosphorylase kinase catalytic subunit gamma 2
Gene symbol PHKG2
Synonyms (NCBI Gene)
GSD9C
Chromosome 16
Chromosome location 16p11.2
Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic i
SNPs SNP information provided by dbSNP.
16
SNP ID Visualize variation Clinical significance Consequence
rs137853588 G>A Pathogenic Coding sequence variant, missense variant
rs137853589 T>A Pathogenic Coding sequence variant, missense variant
rs137853590 C>T Pathogenic Coding sequence variant, stop gained
rs137853591 C>T Pathogenic Coding sequence variant, missense variant
rs137853592 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
434
miRTarBase ID miRNA Experiments Reference
MIRT045827 hsa-miR-138-5p CLASH 23622248
MIRT040308 hsa-miR-615-3p CLASH 23622248
MIRT720509 hsa-miR-939-3p HITS-CLIP 19536157
MIRT720508 hsa-miR-6852-5p HITS-CLIP 19536157
MIRT720507 hsa-miR-6742-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity TAS 10487978
GO:0004689 Function Phosphorylase kinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172471 8931 ENSG00000156873
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15735
Protein name Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (PHK-gamma-LT) (PHK-gamma-T) (EC 2.7.11.19) (PSK-C3) (Phosphorylase kinase subunit gamma-2)
Protein function Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the
PDB 2Y7J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 24 291 Protein kinase domain Domain
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
  Glycogen breakdown (glycogenolysis)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
362
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glycogen phosphorylase kinase deficiency Likely pathogenic; Pathogenic rs760257918, rs752961445, rs767427889 RCV003155788
RCV004586917
RCV005236770
Glycogen storage disease IXc Likely pathogenic; Pathogenic rs751600886, rs2151310104, rs778952896, rs1450937339, rs994896967, rs1445993948, rs2151310413, rs2543470606, rs1567261757, rs2543469765, rs2543470691, rs2490967067, rs760257918, rs764699954, rs137853588
View all (28 more)
RCV001378113
RCV001384793
RCV001958829
RCV002037880
RCV002249130
RCV002250229
RCV002251200
RCV002283984
RCV002857514
RCV002858048
RCV002875884
RCV003047356
RCV004596573
RCV000014595
RCV000014596
RCV000014597
RCV000014598
RCV000014599
RCV000014600
RCV000014601
RCV003513844
RCV003516373
RCV003515045
RCV003516009
RCV003628039
RCV003628269
RCV003626258
RCV003859741
RCV003989423
RCV000647370
RCV000647369
RCV000700365
RCV000686201
RCV000761513
RCV000856690
RCV000856689
RCV000989594
RCV000989595
RCV001218555
RCV001225980
RCV003770291
RCV001293805
RCV001293806
Glycogen storage disease type IXc Pathogenic; Likely pathogenic rs1270523244, rs772912966 RCV001250204
RCV001250205
PHKG2-related disorder Likely pathogenic; Pathogenic rs751600886 RCV003405626
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs138416154 RCV005894450
Cervical cancer Conflicting classifications of pathogenicity rs138416154 RCV005894451
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs138416154 RCV005894452
Colorectal cancer Conflicting classifications of pathogenicity rs138416154 RCV005894453
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 35549678
Adenoma Liver Cell Associate 24389071
Breast Neoplasms Associate 24884718
Carcinoma Renal Cell Associate 36081434
Colorectal Neoplasms Associate 26486455
Endometrial Neoplasms Associate 34170849
Glycogen Storage Disease Associate 22899091, 30659246, 35549678
Glycogen Storage Disease Type II Associate 24389071, 35549678
Glycogen Storage Disease Type Ix Associate 24389071
Glycogen Storage Disease Type VI Associate 24389071